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  3. Mandibuloacral dysplasia with type A lipodystrophy
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Mandibuloacral dysplasia with type A lipodystrophy


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Other Names:
MADA; Lipodystrophy, type A, associated with mandibuloacral dysplasia
Categories:
Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases; Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases; Skin Diseases See More
This disease is grouped under:
Mandibuloacral dysplasia

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 42 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Acroosteolysis of distal phalanges (feet) 0001870
Alopecia
Hair loss
0001596
Aplasia/Hypoplasia of the clavicles
Absent/small collarbone
Absent/underdeveloped collarbone
[ more ]
0006710
Dermal atrophy
Skin degeneration
0004334
Large fontanelles
Wide fontanelles
0000239
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
0001376
Osteolytic defects of the distal phalanges of the hand 0009839
Progeroid facial appearance
Premature aged appearance
0005328
Short distal phalanx of finger
Short outermost finger bone
0009882
Short stature
Decreased body height
Small stature
[ more ]
0004322
Thin skin 0000963
Wormian bones
Extra bones within cranial sutures
0002645
30%-79% of people have these symptoms
Abnormal eyebrow morphology
Abnormality of the eyebrow
0000534
Hyperlipidemia
Elevated lipids in blood
0003077
Insulin resistance
Body fails to respond to insulin
0000855
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
0000520
5%-29% of people have these symptoms
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
0000164
Absent eyelashes
Failure of development of eyelashes
0000561
Arthralgia
Joint pain
0002829
Breast aplasia
Absent breast
0100783
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Flexion contracture
Flexed joint that cannot be straightened
0001371
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Lack of skin elasticity 0100679
Muscular hypotonia
Low or weak muscle tone
0001252
1%-4% of people have these symptoms
Calcinosis
Calcium buildup in soft tissues of body
0003761
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Bird-like facies
Bird-like facial appearance
0000320
Hyperglycemia
High blood sugar
0003074
Impaired glucose tolerance 0040270
Increased facial adipose tissue
Increased amount of facial fat
0000287
Joint stiffness
Stiff joint
Stiff joints
[ more ]
0001387
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Mottled pigmentation
Mottled skin coloring
0001070
Narrow nasal ridge
Decreased width of nasal ridge
Pinched nose
Thin nasal ridge
[ more ]
0000418
Premature loss of teeth
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ]
0006480
Progressive clavicular acroosteolysis 0000905
Reduced subcutaneous adipose tissue
Reduced fat tissue below the skin
0003758
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
0002209
Showing of 42 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mandibuloacral dysplasia with type A lipodystrophy. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
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